Clrn2 clarin 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Clrn2provided by MGI
Official Full Name: clarin 2provided by MGI
Primary source: MGI:MGI:3646230
See related: Ensembl:ENSMUSG00000049530 AllianceGenome:MGI:3646230
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: mpc169H; EG624224
Summary: Involved in auditory receptor cell stereocilium organization; sensory perception of sound; and stereocilium maintenance. Acts upstream of or within inner ear auditory receptor cell differentiation. Located in stereocilium bundle. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness. Orthologous to human CLRN2 (clarin 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 5; 5 B3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (45611021..45621824)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (45453751..45464149)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Clarin-2 gene supplementation durably preserves hearing in a model of progressive hearing loss.
Title: Clarin-2 gene supplementation durably preserves hearing in a model of progressive hearing loss.
In the differentiating hair bundles, lack of clarin-2 leads to loss of mechano-electrical transduction, followed by selective progressive loss of the transducing stereocilia.
Title: Clarin-2 is essential for hearing by maintaining stereocilia integrity and function.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (3) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
involved_in auditory receptor cell stereocilium organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inner ear auditory receptor cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sensory perception of sound	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within stereocilium maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in stereocilium maintenance	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in stereocilium bundle	IDA Inferred from Direct Assay more info	PubMed
located_in stereocilium membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: clarin-2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.